Chemotherapy, transarterial chemoembolization, and nephrectomy combined treated one giant renal cell carcinoma (T3aN1M1) associated with Xp11.2/TFE3: A case report

BACKGROUND: Renal cell carcinoma (RCC) with Xp11.2 translocation/TFE3 gene fusion is a rare and distinct subtype of RCC that is classified under tumors with translocation of the microphthalmia-associated transcriptional factor. CASE SUMMARY: We report an adult case of Xp11.2 translocation advanced RCC with metastasis (T3aN1M1), after targeted treatment, alcohol ablation, and transarterial chemoembolization, who eventually underwent successful surgical excision. No recurrence or transfer was seen within one year, and the survival period was more than 3 years. A review of the relevant literature was conducted to improve our understanding of the pathogenesis, epidemiology, clinical manifestations, diagnosis, differential diagnosis, treatment, and other aspects of the disease. CONCLUSION: Transarterial chemoembolization and ablation did not achieve the desired tumor reduction in this patient, but had a significant effect on reducing intraoperative bleeding and inhibiting tumor activity.